NM_004299.6(ABCB7):c.1300G>A (p.Glu434Lys) AND Anemia sideroblastic and spinocerebellar ataxia
| Significance: | Pathogenic |
|---|---|
| ClinVar: | RCV000012331 |
Variant: NM_004299.6(ABCB7):c.1300G>A (p.Glu434Lys) |
|
| Type: | Variant |
Allele: NM_004299.6(ABCB7):c.1300G>A (p.Glu434Lys) 26614 |
|
| Gene: | ABCB7 |
| Type: | single nucleotide variant |
| Location: |
ChrX: 74290268
- assembly
GRCh37 ChrX: 75070433 - assembly GRCh38 |
| References: | dbSNP:
80356714 OMIM: 300135.0002 |
Condition |
|
| Disease: | Anemia sideroblastic and spinocerebellar ataxia |